The chromosomes of metastatic cells and
polyploid levels in the bone marrow of 26 patients with small cell
anaplastic carcinoma were studied by direct bone marrow preparation and
trypsin-Giemsa banding. Eighteen of these patients had received no
tumor therapy and 8 had had
chemotherapy and/or
radiation therapy; 18 patients, including 5 who had received
therapy, had karyotypic abnormalities with or without elevation of the
polyploid level. Modal numbers and
chromosome abnormalities were highly variable in treated and untreated patients. Modes ranged from hypodiploid to
polyploid, but
polyploid modes were the most frequently observed abnormal modes.
Polyploid modes were not seen, however, in post-
therapy patients with the exception of one who had received
radiation therapy to the mediastinum for only 4 days prior to withdrawal of the specimen for chromosome analysis. Ten patients had elevated
polyploid levels that ranged from 4.24 to 44.8% and always occurred in conjunction with karyotypic abnormalities. Both aneusomy (abnormal number) of normal chromosomes and structural aberrations (markers) occurred frequently. Some markers were consistent within an individual, but other variable aberrations were also typically present. Very few markers were common to 2 or more patients. The no. 1 chromosome participated in marker formation in 14 of the 18 patients with karyotypic abnormalities. Of the 26 patients, 5 were negative for
metastasis to the marrow by pathologic examination but positive by cytogenetic diagnosis, whereas none were positive by pathologic examination and negative by cytogenetic diagnosis; this demonstrated that cytogenetics may be used as a rapid adjunct diagnostic procedure for the detection of
metastasis in the marrow.